[Globoid cell leukodystrophy of adult. A first case in Poland].

[krabbe disease]

Krabbe disease (globoid cell leukodystrophy ) is a progressive , autosomal recessive disorder affecting peripheral and central nervous system . This disease is associated with mutation in GALC gene and its locus has been mapped to chromosome 14 q 31 . GALC gene codes lysosomal hydrolytic enzyme : galactocerebroside β-galactosidase (galactosylceramidase ) which is crucial for degradation of galactolipids , mostly galactosylceramide and galactosylsphingosine (psychosine ). The disease may be subdivided into four types : infantile form with onset within the first six months , child form presenting between 6 months and 3 years , juvenile form presenting between 3 and 10 years and the rarest adult form with onset after 10 years . The diagnosis of Krabbe disease is based on clinical findings and confirmed with galactocerebroside β-galactosidase deficiency . We have found family with adult-onset disease . To our knowledge , this is the first observation of patient with adult form of Krabbe disease in Poland .